TY - JOUR AU - Brönnegård, M AU - Werner, S AU - Gustafsson, J A T1 - Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. PY - 1986/11/01/ AB - We have studied a woman with an apparent receptor-mediated resistance to cortisol on the basis of elevated 24-h mean plasma cortisol levels and increased urinary free cortisol. Plasma ACTH concentrations were normal but she was resistant to adrenal suppression by dexamethasone. No stigmata of Cushing's syndrome were seen. To study the proposed end-organ resistance to cortisol, we examined the glucocorticoid receptor (GR) in lymphocytes and in fibroblasts from this patient and from her son. Several molecular properties of the GR of lymphocytes from the patient were indistinguishable from that of normal control subjects. In thermolability assays, however, the patient's GR as well as her son's GR showed a striking heat sensitivity at 40 degrees and 45 degrees C when compared with GR from normal persons. In addition, data from the thermolability assays correlated well with the lack at 45 degrees C of dexamethasone-induced decrease in in vitro [3H]thymidine incorporation into lymphocytes derived from both patients. JF - The Journal of Clinical Investigation JA - J Clin Invest SN - 0021-9738 DO - 10.1172/JCI112711 VL - 78 IS - 5 UR - https://doi.org/10.1172/JCI112711 SP - 1270 EP - 1278 PB - The American Society for Clinical Investigation ER -